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The pentalogy of Cantrell: A rare and challenging prenatal diagnosis

INTRODUCTION: The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving o...

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Autores principales: Mraihi, Fathi, Basly, Jihene, Mezni, Amani, Ghali, Zeineb, Hafsi, Montasar, Chelli, Dalenda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667751/
https://www.ncbi.nlm.nih.gov/pubmed/37879290
http://dx.doi.org/10.1016/j.ijscr.2023.108941
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author Mraihi, Fathi
Basly, Jihene
Mezni, Amani
Ghali, Zeineb
Hafsi, Montasar
Chelli, Dalenda
author_facet Mraihi, Fathi
Basly, Jihene
Mezni, Amani
Ghali, Zeineb
Hafsi, Montasar
Chelli, Dalenda
author_sort Mraihi, Fathi
collection PubMed
description INTRODUCTION: The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases. PRESENTATION OF CASE: In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases. DISCUSSION: Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life. CONCLUSIONS: Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons.
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spelling pubmed-106677512023-10-10 The pentalogy of Cantrell: A rare and challenging prenatal diagnosis Mraihi, Fathi Basly, Jihene Mezni, Amani Ghali, Zeineb Hafsi, Montasar Chelli, Dalenda Int J Surg Case Rep Case Report INTRODUCTION: The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases. PRESENTATION OF CASE: In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases. DISCUSSION: Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life. CONCLUSIONS: Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons. Elsevier 2023-10-10 /pmc/articles/PMC10667751/ /pubmed/37879290 http://dx.doi.org/10.1016/j.ijscr.2023.108941 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Mraihi, Fathi
Basly, Jihene
Mezni, Amani
Ghali, Zeineb
Hafsi, Montasar
Chelli, Dalenda
The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title_full The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title_fullStr The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title_full_unstemmed The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title_short The pentalogy of Cantrell: A rare and challenging prenatal diagnosis
title_sort pentalogy of cantrell: a rare and challenging prenatal diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667751/
https://www.ncbi.nlm.nih.gov/pubmed/37879290
http://dx.doi.org/10.1016/j.ijscr.2023.108941
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